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Fuad Al Mutairi · SciRah

Researcher profile · Semantic Scholar

Fuad Al Mutairi

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Fuad Al Mutairi — researcher profile on SciRah

h-index: 25
Works: 80
Citations: 2,695

Most-cited papers

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
A. Alazami, N. Patel, H. Shamseldin, S. Anazi +49 more
2015Cell Reports461 citations Open access
Semantic Scholar
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
D. Monies, M. Abouelhoda, M. AlSayed, Z. Alhassnan +103 more
2017Human Genetics295 citations Open access
Semantic Scholar
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
D. Monies, M. Abouelhoda, M. Assoum, N. Moghrabi +113 more
2019American Journal of Human Genetics210 citations Open access
Semantic Scholar
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing
Ahmed Alfares, Taghrid Aloraini, Lamia Alsubaie, Abdulelah Alissa +9 more
2018Genetics in Medicine166 citations Open access
Semantic Scholar
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders
M. Alfadhel, Ali Al Othaim, S. al Saif, Fuad Al Mutairi +24 more
2017Journal of Paediatrics and Child Health110 citations
Semantic Scholar
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
A. Bertoli-Avella, C. Beetz, Najim Ameziane, Maria Eugenia Rocha +31 more
2020European Journal of Human Genetics104 citations Open access
Semantic Scholar
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
D. Monies, M. Abouelhoda, M. Assoum, Nabil Moghrabi +114 more
2019American Journal of Human Genetics103 citations Open access
Semantic Scholar
Hyperhomocysteinemia: Clinical Insights
Fuad Al Mutairi
2020Journal of Central Nervous System Disease94 citations Open access
Semantic Scholar
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
Ahmed Alfares, M. Alfadhel, T. Wani, S. Alsahli +25 more
2017Molecular Genetics and Metabolism85 citations
Semantic Scholar
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
M. Alfadhel, Mohammed Benmeakel, M. A. Hossain, Fuad Al Mutairi +5 more
2016Orphanet Journal of Rare Diseases80 citations Open access
Semantic Scholar
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease
T. Le Voyer, Anna-Lena Neehus, Rui Yang, Masato Ogishi +36 more
2021Proceedings of the National Academy of Sciences of the United States of America69 citations Open access
Semantic Scholar
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
A. Bertoli-Avella, K. Kandaswamy, Suliman Khan, Natalia Ordoñez-Herrera +33 more
2021Genetics in Medicine54 citations Open access
Semantic Scholar
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.
Fuad Al Mutairi, M. Alfadhel, Marwan Nashabat, A. El-Hattab +12 more
2018Pediatric Neurology51 citations
Semantic Scholar
Guidelines for acute management of hyperammonemia in the Middle East region
M. Alfadhel, Fuad Al Mutairi, N. Makhseed, Fatma Al Jasmi +7 more
2016Therapeutics and Clinical Risk Management41 citations Open access
Semantic Scholar
Congenital disorders of glycosylation: The Saudi experience
S. Alsubhi, A. Alhashem, E. Faqeih, M. Alfadhel +13 more
2017American Journal of Medical Genetics. Part A40 citations
Semantic Scholar
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders
V. Salpietro, M. Zollo, J. Vandrovcova, M. Ryten +8 more
2017Brain : a journal of neurology39 citations Open access
Semantic Scholar
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
M. Alfadhel, Marwan Nashabat, H. Al Qahtani, Ahmed Alfares +9 more
2016Human Genetics38 citations Open access
Semantic Scholar
hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia
Duncan I. Mackie, Fuad Al Mutairi, Reema B. Davis, Daniel O. Kechele +8 more
2018Journal of Experimental Medicine36 citations Open access
Semantic Scholar
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
L. Alabdi, S. Maddirevula, H. Shamseldin, Ebtissal Khouj +64 more
2023Nature Communications34 citations Open access
Semantic Scholar
Common disease-associated gene variants in a Saudi Arabian population
M. Al Eissa, Taghrid Aloraini, Lamia Alsubaie, M. Hassoun +7 more
2022Annals of Saudi Medicine31 citations Open access
Semantic Scholar
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
M. Wagner, Y. Skorobogatko, B. Pode-Shakked, C. Powell +21 more
2020American Journal of Human Genetics27 citations Open access
Semantic Scholar
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update
S. Maddirevula, H. Shamseldin, A. Sirr, L. Alabdi +26 more
2020Frontiers in Genetics26 citations Open access
Semantic Scholar
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Chun-Mei Li, Éliane Beauregard-Lacroix, Christine Kondratev, J. Rousseau +15 more
2020American Journal of Human Genetics26 citations Open access
Semantic Scholar
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4
S. Alsahli, M. Alrifai, S. A. Al Tala, Fuad Al Mutairi +1 more
2018Journal of Central Nervous System Disease26 citations Open access
Semantic Scholar
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
Ricardo Moreno Traspas, T. Teoh, Pui-Mun Wong, Michael Maier +43 more
2022Nature Genetics25 citations Open access
Semantic Scholar
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
M. Alfadhel, Mohammed A. Almuqbil, Fuad Al Mutairi, Muhammad Umair +25 more
2021Frontiers in Pediatrics24 citations Open access
Semantic Scholar
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
M. Alfadhel, Marwan Nashabat, M. Alrifai, H. Alshaalan +11 more
2018European journal of paediatric neurology24 citations
Semantic Scholar
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
R. Maroofian, R. Kaiyrzhanov, Elisa Calì, M. Zamani +82 more
2023Brain : a journal of neurology22 citations Open access
Semantic Scholar
The fragile site WWOX gene and the developing brain
B. Tabarki, Fuad Al Mutairi, A. A. Al Hashem
2015Experimental biology and medicine22 citations Open access
Semantic Scholar
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
M. Alfadhel, Marwan Nashabat, M. Saleh, M. Elamin +16 more
2021Orphanet Journal of Rare Diseases21 citations Open access
Semantic Scholar
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
M. Alfadhel, Basma Abadel, Hind Almaghthawi, Muhammad Umair +8 more
2022Frontiers in Genetics20 citations Open access
Semantic Scholar
Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities
Salem Alawbathani, A. Westenberger, Natalia Ordoñez-Herrera, M. Alhilali +23 more
2021Clinical Genetics20 citations Open access
Semantic Scholar
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.
A. Obaid, Marwan Nashabat, M. Alfadhel, A. Alasmari +8 more
2018JIMD Reports20 citations Open access
Semantic Scholar
Peeling skin syndrome associated with novel variant in FLG2 gene
Ahmed Alfares, S. Al-khenaizan, Fuad Al Mutairi
2017American Journal of Medical Genetics. Part A18 citations
Semantic Scholar
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
F. Langhammer, R. Maroofian, Rueda Badar, A. Gregor +60 more
2023Genetics in Medicine16 citations Open access
Semantic Scholar
Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
Fuad Al Mutairi, Randa Alkhalaf, Abdullah Alkhorayyef, Fayhan J. Alroqi +10 more
2020BMC Pulmonary Medicine16 citations Open access
Semantic Scholar
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
Ahmad Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar +25 more
2020BMC Medical Genomics16 citations Open access
Semantic Scholar
The rate of secondary genomic findings in the Saudi population
Taghrid Aloraini, Lamia Alsubaie, S. Alasker, Abdulrahman Al Muitiri +6 more
2021American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial
Marwan Nashabat, A. Obaid, Fuad Al Mutairi, M. Saleh +11 more
2019BMC Pediatrics15 citations Open access
Semantic Scholar
A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin
Fuad Al Mutairi, F. Alzahrani, F. Ababneh, A. Kashgari +1 more
2018Annals of Neurology12 citations
Semantic Scholar
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
D. Marafi, Nina Kozar, R. Duan, Stephen Bradley +36 more
2022American Journal of Human Genetics11 citations Open access
Semantic Scholar
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients
Afnan Alghamdi, M. Alrifai, Abdullah Al Hammad, Fuad Al Mutairi +3 more
2018Journal of Child Neurology11 citations
Semantic Scholar
A founder DBR1 variant causes a lethal form of congenital ichthyosis
H. Shamseldin, M. Sadagopan, Javier Martini, R. Al-Ali +12 more
2023Human Genetics10 citations
Semantic Scholar
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
Anar Alfarsi, M. Alfadhel, S. Alameer, A. Alhashem +4 more
2021Molecular Genetics and Metabolism Reports10 citations Open access
Semantic Scholar
Genomic testing and counseling: The contribution of next‐generation sequencing to epilepsy genetics
Lamia Alsubaie, Taghrid Aloraini, Manal Amoudi, Abdulrahman Swaid +13 more
2020Annals of Human Genetics10 citations
Semantic Scholar
Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy
S. Alsahli, W. Al-Twaijri, Fuad Al Mutairi
2018Epilepsia Open10 citations Open access
Semantic Scholar
LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact
C. Beetz, A. Westenberger, R. Al-Ali, Najim Ameziane +11 more
2021Movement Disorders9 citations Open access
Semantic Scholar
Expanding the Phenotype of PPP1R21-Related Neurodevelopmental Disorder
M. Almannai, D. Marafi, M. Zaki, R. Maroofian +19 more
2024Clinical Genetics8 citations Open access
Semantic Scholar
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study
Lamia K. Alshamlani, Dana Alsulaim, Raghad S Alabbad, Ahad Alhoshan +11 more
2024The Application of Clinical Genetics8 citations Open access
Semantic Scholar
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning
A. Althagafi, Lamia Alsubaie, N. Kathiresan, K. Mineta +6 more
2021bioRxiv8 citations Open access
Semantic Scholar

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M. Alfadhel×29
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M. Alfadhel — researcher profile on SciRah
E. Faqeih×15
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E. Faqeih — researcher profile on SciRah
F. Alkuraya×15
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W. Eyaid×15
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A. Alhashem — researcher profile on SciRah

Ahmed Alfares×12

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A. Alasmari — researcher profile on SciRah

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Faroug Ababneh×8

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Lamia Alsubaie×7

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Lamia Alsubaie — researcher profile on SciRah